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Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling. Genes are the common factor of the qualities of most human-inherited traits.
However, some people tan more easily than others, due to differences in their genotype: [5] a striking example is people with the inherited trait of albinism, who do not tan at all and are very sensitive to sunburn. [6] Heritable traits are known to be passed from one generation to the next via DNA, a molecule that encodes genetic information. [2]
Genetic disorders are diseases that are caused by a single allele of a gene and are inherited in families. These include Huntington's disease, cystic fibrosis or Duchenne muscular dystrophy. Cystic fibrosis, for example, is caused by mutations in a single gene called CFTR and is inherited as a recessive trait. [16]
Heritability for traits in humans is most frequently estimated by comparing resemblances between twins. "The advantage of twin studies, is that the total variance can be split up into genetic, shared or common environmental, and unique environmental components, enabling an accurate estimation of heritability". [21]
The discrete versions of the same gene controlling the inherited appearance (phenotypes) are called alleles. [19] [44] In the case of the pea, which is a diploid species, each individual plant has two copies of each gene, one copy inherited from each parent. [45] Many species, including humans, have this pattern of inheritance.
A graphical representation of the typical human karyotype The human mitochondrial DNA. Human genetic variation is the genetic differences in and among populations.There may be multiple variants of any given gene in the human population (), a situation called polymorphism.
Some genes only express a given phenotype in certain environmental conditions. Conversely, some phenotypes could be the result of multiple genotypes. The genotype is commonly mixed up with the phenotype which describes the result of both the genetic and the environmental factors giving the observed expression (e.g. blue eyes, hair color, or ...
A phenotypic trait is an obvious, observable, and measurable characteristic of an organism; it is the expression of genes in an observable way. An example of a phenotypic trait is a specific hair color or eye color. Underlying genes, that make up the genotype, determine the hair color, but the hair color observed is the phenotype.